Genetics and Genomics

Question 1

It is the study of SINGLE genes.

Answer 1

Genetics

Question 2

It is the study of gene functions, interactions, and the environment.

Answer 2

Genomics

Question 3

A gene that influences the chances of an individual in developing a condition.

Answer 3

Susceptibility Gene

Question 4

TRUE OR FALSE

All diseases and medical conditions have a genetic component.

Answer 4

FALSE

TRAUMA is a medical condition that is not related to genetic components

Question 5

It is the development of drugs that specifically target mutations or their products.

Answer 5

Pharmacogenomics

Question 6

They are the individual segments of DNA.

Answer 6

Genes

Question 7

It is the singular term for a tightly-coiled strand of DNA.

Answer 7

Chromosome

Question 8

TRUE OR FALSE

INTRONS are coding sequences while EXONS are non-coding.

Answer 8

FALSE

INTRONS are non-coding sequences while EXONS are coding sequences.

Question 9

TRUE OR FALSE

The PHENOTYPE refers the observable manifestations of genetic expression while the GENOTYPE refers to the genetic composition.

Answer 9

TRUE

Question 10

This refers to the normal variants in genes that makes individuals unique from one another.

Answer 10

Polymorphism

Question 11

These are changes in the genetic code that causes or may influence the manifestation of diseases.

Answer 11

Mutations

Question 12

YES OR NO - the ff. mutations are matched with their correct descriptions:

Acquired - mutates during embryonic development
Inherited - randomly arises in a body cell and is present in all subsequent body cells
Germline - passed on from parents to offspring
Somatic - mutations on either egg or sperm cell which may or may not be passed on to develop related conditions

Answer 12

NO

Acquired - mutates during embryonic development
Inherited -passed on from parents to offspring
Germline - mutations on either egg or sperm cell which may or may not be passed on to develop related conditions
Somatic - randomly arises in a body cell and is present in all subsequent body cells

Question 13

YES OR NO - the ff. are matched with their correct descriptions

Point mutation - affects a single nucleotide only
Deletion - the removal of a nucleotide sequence
Insertion - the addition of nucleotide/s
Increased repeated - the expansion of repeated nucleotides

Answer 13

YES

Question 14

TRUE OR FALSE

There are five (5) types and principles of Mendelian Inheritance

Answer 14

FALSE

There are only four (4) - namely:

(1) Autosomal Dominant
(2) Autosomal Recessive
(3) X-linked Dominant
(4) X-linked Recessive

Question 15

It is an all or nothing trait that determines the probability of a mutated allele expressing itself.

Answer 15

Penetrance

Question 16

It refers to the degree and severity when a mutated allele manifests itself.

Answer 16

Expressivity

Question 17

It is a progressive disorder of motor, cognitive, and psychiatric functions. Full penetrance happens when CHG repeat is >40. It is an autosomal dominant disorder.

Answer 17

Huntington’s Disease (HD)

Question 18

It is an autosomal dominant disorder characterized by axillary and inguinal freckling, Cafe-au-lait spots, and increased benign tumor development.

Answer 18

Neurofibromatosis Type 1 (NF1)

Question 19

It is an autosomal recessive condition which causes Leu, Ile, and Val buildup secondary to defective BCKD proteins.

Answer 19

Maple Syrup Urine Disease (MUSD)

Question 20

It is an X-linked recessive condition that is characterized by the lack of a specific enzyme which is extremely important in cellular metabolism.

Answer 20

G6PD Deficiency

Question 21

It is an X-linked recessive disorder characterized by dystonia and has its maternal roots from the Panay Islands.

Answer 21

X-linked Dystonia Parkinsonism

Question 22

It is an X-linked dominant condition caused by mutations in the MECP2 gene. The condition is lethal to males.

Answer 22

Rett Syndrome

Question 23

It is caused by having an extra copy of the 21st chromosome.

Answer 23

Trisomy 21 / Down Syndrome